Human malformations and related anomalies:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford
Oxford Univ. Press
2006
|
| Ausgabe: | 2. ed. |
| Schriftenreihe: | Oxford monographs on medical genetics
52 |
| Schlagworte: | |
| Online-Zugang: | Publisher description Table of contents Inhaltsverzeichnis |
| Beschreibung: | XIV, 1495 S. zahlr. Ill., graph. Darst. 28 cm |
| ISBN: | 0195165683 |
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| 245 | 1 | 0 | |a Human malformations and related anomalies |c ed. by Roger E. Stevenson ... |
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| 264 | 1 | |a Oxford |b Oxford Univ. Press |c 2006 | |
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| 490 | 1 | |a Oxford monographs on medical genetics |v 52 | |
| 650 | 4 | |a Abnormalities, Human | |
| 650 | 4 | |a Abnormalities | |
| 650 | 4 | |a Genetics, Medical | |
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Datensatz im Suchindex
| _version_ | 1804135463564345344 |
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| adam_text | Contributors xiii
Part I—Overview
1. Human Malformations and Related Anomalies 3
Roger E. Stevenson
1.1 Nomenclature 6
1.2 Classification and Coding 13
1.3 Genetic Causes of Malformations 14
1.4 Gene Mutations and Malformations 22
1.5 Environmental Causes of Malformations 33
1.6 Human Anomalies with Unknown Causes 58
1.7 Detection, Diagnosis, Evaluation,
Management 58
1.8 Discussions with the Family 71
Part II—Cardiorespiratory Organs
2. Heart 85
Angela E. Lin, John Belmont, and Sadia Malik
2.1 Heterotaxy 93
2.2 Single Ventricle 96
2.3 Conotruncal Defects 97
2.4 Atrioventricular Septal Defects 101
2.5 Right Ventricular Outflow Tract
Obstructive Defects 103
2.6 Left Ventricular Outflow Tract
Obstructive Defects 106
2.7 Atrial Septal Defects 112
2.8 Ventricular Septal Defects 113
2.9 Anomalies of the Pulmonary Veins 115
2.10 Abnormal Systemic Venous Connections 117
2.11 Anomalies of the Ductus Arteriosus 118
2.12 Aortopulmonary Window (Aortopulmonary
Septal Defect) 119
2.13 Anomalies of the Coronary Arteries 119
2.14 Anomalies of the Pericardium 120
3. Systemic Vasculature 121
Lynne M. Bird and Kenneth Lyons Jones
3.1 Interrupted Aortic Arch 121
3.2 Right Aortic Arch 123
3.3 Cervical Aortic Arch 125
3.4 Double Aortic Arch 125
3.5 Double Lumen Aortic Arch 126
3.6 Incidental Anomalies of the Aortic Arch 127
3.7 Innominate Artery Variants 128
3.8 Subclavian Artery Variants 129
3.9 Patent Ductus Arteriosus 130
3.10 Coarctation of the Aorta 133
3.11 Persistent Left Superior Vena Cava 136
3.12 Inferior Vena Cava Variants 137
3.13 Miscellaneous Venous Variants 138
3.14 Deep Vein Abnormalities 139
3.15 Vascular Malformations 140
4. Lymphatic System 145
Judith E. Allanson
4.1 Primary Lymphatic Anomalies 146
4.2 Pulmonary Lymphangiectasia 161
4.3 Fetal Cystic Hygroma 163
4.4 Lymphangioma 169
4.5 Lymphangioleiomyomatosis 180
5. Spleen 183
Arthur S. Aylsworth
5.1 Polyasplenia 185
5.2 Positional Alterations of the Spleen 195
5.3 Accessory Spleens, Structural Variation, and Fusion
to Other Organs 196
6. Lower Respiratory Organs 201
Laurie H. Seaver
6.1 Bifid Epiglottis 201
6.2 Laryngeal Atresia, Webs, and Stenosis 202
6.3 Laryngotracheoesophageal Cleft 205
6.4 Tracheal Agenesis 206
6.5 Tracheal Stenosis 207
viii Cont
6.6 Congenital Tracheal Cartilaginous Sleeve 209
6.7 Tracheoesophageal Fistula 209
6.8 Pulmonary Agenesis/Aplasia 209
6.9 Congenital Cystic Adenomatoid Malformation 211
6.10 Congenital Lobar Emphysema 213
6.11 Primary Pulmonary Hypoplasia 213
6.12 Congenital Diaphragmatic Hernia 214
Part III—Craniofacial Structures
7. Skull 221
John M. Graham, Jr.
7.1 Craniosynostosis 221
7.2 Kleeblattschadel 235
7.3 Wide Cranial Sutures 237
7.4 Anomalies of Fontanels 238
7.5 Cranial Dermal Sinus 242
7.6 Parietal Foramina (Includes Cranium Bifidum) 243
7.7 Wormian Bones 245
7.8 Scalp Vertex Aplasia 246
7.9 Thin Cranial Bones 248
7.10 Undermineralization of the Skull 248
7.11 Craniotabes 249
7.12 Thick Cranial Bones 251
7.13 Sclerosis and Hyperostosis of the Skull 254
7.14 Vertex Birth Molding 254
7.15 Breech Head (Bathrocephaly) 257
7.16 Other Cranial Deformations Due to Abnormal
Fetal Presentation 258
7.17 Anomalies of the Sella Turcica 259
7.18 Anomalies of Foramen Magnum 260
7.19 Anomalies of the Other Basal Foramina
and Canals 261
7.20 Basilar Impression 261
7.21 Cephalhematoma and Caput Succedaneum 262
7.22 Miscellaneous Anomalies of the Skull 264
8. Facial Bones 267
Karen Gripp and Luis Fernando Escobar
8.1 Premature Metopic Sutural Synostosis 268
8.2 Orbital Hypotelorism 270
8.3 Orbital Hypertelorism 273
8.4 Midline Facial Skeletal Clefting 278
8.5 Absence and Hypoplasia of the Zygoma 280
8.6 Midface Retrusion and Hypoplasia 283
8.7 Agnathia 287
8.8 Micrognathia 288
8.9 Congenital Asymmetry of the Facial Skeleton 292
9. Eye 297
Elias I. Traboulsi
9.1 Anophthalmia 299
9.2 Microphthalmia and Typical Uveal Coloboma 300
9.3 Cyclopia and Synophthalmia 302
9.4 Cryptophthalmos 303
9.5 Blepharophimosis 305
9.6 Other Anomalies of the Eyelids 306
9.7 Congenital Corneal Anomalies 309
9.8 Anterior Segment Dysgenesis 311
9.9 Peters Anomaly 313
9.10 Hypoplasia of the Iris (Aniridia) 314
ents
9.11 Congenital Cataracts 316
9.12 Persistent Hyperplastic Primary Vitreous or Persis¬
tence of the Fetal Vasculature 318
9.13 Optic Nerve Hypoplasia 320
9.14 Morning Glory Disc Anomaly 322
9.15 Optic Pit 324
10. Ear 327
John C. Carey
External Ear 329
John C. Carey, Albert H. Park, and Harlan R. Muntz
10.1 Microtia/Anotia 331
10.2 Small Ear 335
10.3 External Auditory Canal Stenosis and Atresia
Without Microtia 336
10.4 Cryptotia 338
10.5 Large Ear (Macrotia) 338
10.6 Polyotia 339
10.7 Duplication of the External Auditory Meatus 340
10.8 Synotia/Otocephaly 340
10.9 Low set Ears 342
10.10 Posteriorly Rotated Ears 344
10.11 Lop/Cup Ear Anomaly 344
10.12 Protruding Ear 346
10.13 StahlEar 348
10.14 Mozart Ear 349
10.15 Darwinian Tubercle 350
10.16 Prominent Cms of the Helix 350
10.17 Lobular Defects 350
10.18 Auricular Tags 351
10.19 Auricular Pits 353
10.20 Ear Lob Creases/Pits 355
10.21 Deformation of the Auricle 356
Middle Ear 356
John C. Carey and Albert H. Park
10.22 Hypoplasia/Aplasia/Malformation
of the Malleus 358
10.23 Fusion Defects of the Malleus 359
10.24 Hypoplasia/Aplasia/Malformation of the Incus 361
10.25 Fusion Defects of the Incus 362
10.26 Hypoplasia/Aplasia/Malformation of the Stapes 362
10.27 Congenital Fixation of the Stapes 363
10.28 Absence of the Oval Window 364
10.29 Congenital Cholesteatoma 364
10.30 Persistence of the Stapedial Artery 365
10.31 Highly Placed Jugular Bulb 365
Inner Ear 366
Daryl A. Scott and John C. Carey
10.32 Vestibular Dysplasias 366
10.33 Prelingual Hearing Loss 369
11. Nose 373
M. Michael Cohen, Jr.
11.1 Arhinia 374
11.2 Unilateral Arhinia, Heminasal Aplasia 374
11.3 Small Nose 375
11.4 Nostril Coloboma 376
11.5 Bifid Nose 376
11.6 Nostril Atresia 377
Con
11.7 Choanal Atresia 377
11.8 Polyrrhinia 378
11.9 Proboscis 378
11.10 Noses of Distinction 381
11.11 Deviation of the Nasal Septum 386
11.12 Turbinate Deformity 386
11.13 Arrhinencephaly 386
11.14 Hemangioma of the Nose 386
11.15 Dermoid Cyst of the Nose 388
11.16 Glioma of the Nose 388
11.17 Encephalocele Involving the Nose 388
12. Lips 391
Marilyn Jones
12.1 Median Cleft Lip 393
12.2 Cleft Lip With or Without
Cleft Palate (CL/P) 394
12.3 Cleft Palate 400
13. Tongue 405
Robert J. Gorlin
13.1 Aglossia, Hypoglossia, Microglossia 406
13.2 Absence of Lingual Frenulum 406
13.3 Macroglossia 407
13.4 Bifid Tongue 408
13.5 Fissured Tongue, Scrotal Tongue,
Lingua Plicata 408
13.6 Glossopalatine Ankylosis
(Ankyloglossum Superius) 409
13.7 Ankyloglossia: Tongue tie, Partial Ankyloglossia,
Total and Lateral Ankyloglossia 410
13.8 Median Rhomboid Glossitis 411
13.9 Double Tongue 412
13.10 Lingual Thyroid 413
13.11 Choristoma of Tongue: Enterogenous Cyst
of Tongue 414
13.12 Choristoma of Tongue: Epidermoid Cyst
of Tongue 416
13.13 Choristoma of Tongue: Cyst Lined with Respiratory
Epithelium or Nonciliated Columnar
: Epithelium 416
! 13.14 Choristoma of Tongue: Brain Tissue in Tongue 416
| 13.15 Choristoma of Tongue: Chondroma
and Osteoma 417
13.16 Congenital Dermoid Cyst 418
13.17 Hamartoma: Lymphangioma of the Tongue 419
13.18 Hamartoma of the Tongue: Hemangioma 420
1 13.19 Hamartoma of the Tongue: Mixed
i Type (Mesenchymoma) 420
13.20 Congenital Teratoma 421
13.21 Abnormal Tongue Movements and Excessive
Mobility of the Tongue 421
13.22 Pigmented Fungiform Papillae and Other Lingual
Pigmentations 423
14. Teeth 425
Rena N. D Souza, Hitesh Kapadia, and Alexandre R. Vieira
14.1 Tooth Agenesis 431
14.2 Supernumerary Teeth 444
14.3 Microdontia 446
14.4 Macrodontia 451
14.5 Abnormalities of Tooth Shape 452
tents
14.6 Dental Malocclusion 456
14.7 Enamel Dysplasia 458
14.8 Dentin Dysplasia 461
14.9 Cementum Dysplasia 463
14.10 Abnormalities of Tooth Eruption 463
Part IV—Neuromuscular Systems
15. Brain 469
Alasdair G. W. Hunter
15.1 Microcephaly 470
15.2 Megalencephaly 511
15.3 Aprosencephaly/Atelencephaly 525
15.4 Holoprosencephaly 528
15.5 Malformations of Cortical Development:
Disorders of Neuronal and Glial
Formation, Migration, and Maturation;
Lissencephaly, Pachygyria, Polymicrogyria,
Heterotopias, Ectopias, and Cortical
Dysplasias 546
15.6 Agenesis of the Corpus Callosum 581
15.7 Cavum, Cysts, and Absence of the Septum
Pellucidum and Cavum Vergae 604
15.8 Hydrocephalus 610
15.9 Colpocephaly 636
15.10 Hydranencephaly 639
15.11 Porencephaly 645
15.12 Cerebellar Anomalies 654
15.13 Cystic Malformations 677
15.14 Chiari Malformations 700
16. Brain and Spinal Cord 715
Alasdair G. W. Hunter
16.1 Disorders of Neural Tube Closure 715
17. Spinal Cord 757
Alasdair G. W. Hunter
17.1 Primary Tethered Cord 757
17.2 Neurenteric Malformations 762
17.3 Intraspinal (Nonneurenteric) Cysts 764
17.4 Syringomyelia 768
17.5 Split Cord Malformation (Diastematomyelia)
and Diplomyelia 773
17.6 Myelocystocele 776
17.7 Anterior and Lateral Meningoceles 778
17.8 Tailgut Cyst 782
18. Muscle 783
Judith G. Hall
18.1 Generalized Abnormalities of Muscle Mass: Incn
Muscle Mass 786
18.2 Generalized Abnormalities of Muscle Mass: Decn
Muscle Mass 788
18.3 Localized Abnormalities of Muscle 790
18.4 Aglossia 791
18.5 Facial Muscle Deficiency 791
18.6 Asymmetric Crying Facies 791
18.7 Deficiency of Eye Muscles 792
18.8 Deficiency of Esophageal Muscles 792
18.9 Defects of Pectoralis Muscles and Other Muscle
the Shoulder Girdle 793
18.10 Poland Anomaly 794
18.11 Poland Mobius Syndrome 795
18.12 Poland Like Gluteal Lower Leg Anomaly 796
18.13 Prune Belly Syndrome 797
18.14 Isolated Deficiency of Abdominal Muscles 799
18.15 Diaphragmatic Defects 799
18.16 Variations with Accessory Muscle Tissue 800
18.17 Muscle Atavisms 800
18.18 Muscle Abnormalities Associated with
Chromosomal Disorders 801
Part V—Skeletal System 19. Pectoral Girdle, Spine, Ribs, and Pelvic Girdle 805
Louanne Hudgins and Keith Vaux
19.1 Clavicular Hypoplasia/Aplasia 806
19.2 Clavicular Pseudarthrosis 807
19.3 Altered Shape and Other Abnormalities
of the Clavicle 807
19.4 Sprengel Anomaly 807
19.5 Glenoid Hypoplasia 809
19.6 Anomalies of the Sternum 810
19.7 Pectus Excavatum/Pectus Carinatum 811
19.8 Rib Anomalies 812
19.9 Cervical Rib 813
19.10 Occipitalization of the Atlas 813
19.11 Aplasia/Hypoplasia of the Odontoid Process
of the Axis 818
19.12 Segmentation/Formation Defects
of the Vertebrae 819
19.13 Klippel Feil Anomaly 821
19.14 Altered Vertebral Body Contour 823
19.15 Sagittal Clefts of the Vertebrae 825
19.16 Coronal Clefts of the Vertebrae 826
19.17 Spondylolysis and Spondylolisthesis 827
19.18 Sacral Agenesis 829
19.19 Anomalies of the Pelvic Bones 830
19.20 Developmental Dysplasia of the Hip 830
19.21 CoxaVara 833
19.22 CoxaValga 833
20. Limbs 835
Roger E. Stevenson
20.1 Limb Deficiencies 839
20.2 Synostosis 856
20.3 Constriction Rings 871
20.4 Duplications, Excessive Partitions, and
Accessory Bones 876
20.5 Bowing of Long Bones 882
20.6 Short Stature 894
20.7 Tall Stature 900
20.8 Limb Overgrowth 902
20.9 Increased Bone Density 910
20.10 Decreased Bone Density 914
20.11 Osteolysis 916
20.12 Anomalies of the Patella 919
20.13 Hypermobile Joints 922
20.14 Arthrogryposis (Multiple Congenital
Contractures) 925
Judith G. Hall
21. Hands and Feet 935
David B. Everman
21.1 The Polydactylies 937
21.2 The Syndactylies 954
21.3 The Brachydactylies 968
21.4 The Oligodactylies 984
22. Skeletal Dysplasias 997
Jurgen Spranger
Part VI—Gastrointestinal and Related Structures
23. Ventral Wall of the Trunk 1023
Cynthia Curry, Ellen Boyd, and Roger E. Stevenson
23.1 Sternal Defects 1025
23.2 Ectopia Cordis, Including Cantrell Pentalogy 1027
23.3 The Umbilicus: Congenital Anomalies
and Variations in Configuration
and Placement 1028
23.4 Umbilical Hernia 1031
23.5 Omphalocele 1034
23.6 Gastroschisis 1038
23.7 Exstrophy of the Bladder 1042
23.8 Exstrophy of the Cloaca 1046
Breasts 1049
Ellen Boyd and Roger E. Stevenson
23.9 Amastia and Hypomastia 1051
23.10 Enlarged Breasts 1053
23.11 Symmastia 1055
23.12 Supernumerary Breasts and Nipples 1055
23.13 Widely Spaced Nipples 1058
23.14 Gynecomastia 1059
23.15 Premature Thelarche 1063
24. Upper Gastrointestinal System 1065
H. Eugene Hoyme
Pharynx 1067
24.1 Fistulas, Sinuses, and Cysts: Branchial Clefts and
Pouches 1069
24.2 Congenital Pharyngeal Diverticula 1071
Esophagus 1071
24.3 Esophageal Stenosis, Atresia, and Tracheoesophageal
Fistula 1073
24.4 Esophageal Webs and Rings 1076
24.5 Tubular Esophageal Duplications 1077
24.6 Enterogenous Cysts 1077
24.7 Esophageal Diverticula 1078
24.8 Heterotopic Gastric Mucosa
in the Esophagus 1079
24.9 Congenital Short Esophagus 1079
24.10 Achalasia 1079
24.11 Chalasia 1080
Stomach 1081
24.12 Infantile Hypertrophic Pyloric Stenosis 1082
24.13 Microgastria 1084
24.14 Atresia and Stenosis of the Stomach 1084
24.15 True Diverticula of the Stomach 1085
24.16 Duplication of the Stomach 1086
24.17 Defects of Gastric Musculature 1086
24.18 Malposition of the Stomach 1087
24.19 Mucosal Heterotopia 1088
Duodenum 1089
24.20 Malrotation of the Duodenum 1090
24.21 Duodenal Stenosis and Atresia 1090
24.22 Duodenal Duplications 1092
24.23 Duodenal Diverticula 1093
24.24 Congenital Aganglionic Duodenum 1094
24.25 Extrinsic Vascular Obstruction
of the Duodenum 1095
24.26 Congenital Paraduodenal Hernia through a
Peritoneal Defect 1095
25. Small and Large Intestines 1097
Eberhard Passarge and Roger E. Stevenson
25.1 Intestinal Agenesis 1099
25.2 Intestinal Atresia/Stenosis 1099
25.3 Duplications and Cysts 1103
25.4 Megacolon 1105
25.5 Malrotation 1109
25.6 Meckel Diverticulum 1111
25.7 Polyps 1111
25.8 Vascular Anomalies 1114
26. Rectum and Anus 1115
Cathy A. Stevens
26.1 Atresia of the Rectus and Anus 1116
26.2 Rectal Duplication 1122
27. Liver, Gallbladder, and Pancreas 1123
Ian D. Krantz and Arthur S. Aylsworth
27.1 Anomalies of Liver Shape and Lobation 1127
27.2 Liver Dysplasia/Ductal Plate Malformations 1131
27.3 Intrahepatic Biliary Duct Atresia
and Hypoplasia 1136
27.4 Agenesis of the Gallbladder 1139
27.5 Extrahepatic Biliary Atresia 1142
27.6 Cysts of the Biliary System 1145
27.7 Structural Variation and Miscellaneous Anomalies of
the Gallbladder and Extrahepatic Ducts 1147
27.8 Pancreatic Agenesis 1150
27.9 Structural Variation and Anomalies
of the Pancreas 1150
27.10 Pancreatic Cysts and Dysplasias 1154
27.11 Pancreatic Ectopia and Heterotopia 1157
Part VII—Urogenital System Organs 28. Urinary Tract 1161
Jane A. Evans
28.1 Renal Agenesis 1184
28.2 Renal Hypoplasia 1190
28.3 Cystic Diseases 1194
28.4 Autosomal Recessive (Infantile) Polycystic
Kidney Disease 1197
28.5 Autosomal Dominant Polycystic
Kidney Disease 1200
28.6 Renal Dysplasia 1205
28.7 Familial Nephronophthisis/Medullary
Cystic Disease 1215
28.8 Medullary Sponge Kidney 1217
28.9 Renal Cystic Disease Secondary to Obstruction 1219
28.10 Supernumerary Kidney 1222
28.11 Renal Ectopia 1223
28.12 Horseshoe Kidney 1228
28.13 Anomalies of the Bladder and Ureters 1232
28.14 Urachal Anomalies 1234
28.15 Urethral Agenesis or Atresia 1237
28.16 Posterior Urethral Valves and
Urethral Stenosis 1241
28.17 Urethral Duplication 1247
29. Male Genital System 1251
Rick A. Martin
29.1 Micropenis 1255
29.2 Hypospadias 1258
29.3 Epispadias 1261
29.4 Hidden or Concealed Penis 1262
29.5 Megalourethra 1263
29.6 Diphallia 1264
29.7 Aphallia 1265
29.8 Penoscrotal Transposition 1265
29.9 Ectopic/Accessory Scrotum 1267
29.10 Cryptorchidism 1267
29.11 Microorchia/Anorchia/Agonadism 1268
29.12 Polyorchidism (Supernumerary Testes) 1271
29.13 Ectopic Testis 1272
29.14 Male Pseudohermaphroditism and 46.XY
Sex Reversal 1272
29.15 Wolffian Duct Malformations 1276
29.16 Persistent Miillerian Ducts 1276
29.17 Splenogonadal Fusion 1277
29.18 Inguinal Hernia 1277
30. Female Genital System 1279
Leah W. Burke
30.1 Ovarian Dysgenesis 1281
30.2 Mixed Gonadal Dysgenesis 1284
30.3 Hermaphroditism 1286
30.4 Ambiguous Genitalia 1287
30.5 Mullerian Aplasia 1291
Isolated Anomalies of the Mullerian Structures 1294
30.6 Absence of the Fallopian Tube 1294
30.7 Incomplete Mullerian Fusion 1294
30.8 Cervical Atresia 1297
30.9 Vaginal Atresia 1298
30.10 Transverse Vaginal Septum 1299
30.11 Longitudinal Vaginal Septum 1300
30.12 Agenesis of the Clitoris 1300
30.13 Isolated Hypertrophy of the
Clitoris/Clitoromegaly 1301
30.14 Duplication or Bifidism of the
Clitoris/Female Epispadias 1302
30.15 Labial Fusion 1303
30.16 Imperforate Hymen 1303
30.17 Absence/Hypoplasia of External Genitalia 1303
30.18 Hyperplasia, Duplication, and Inversion of
External Genitalia 1304
Part VIII—Other Systems and Structures
31. Cutaneous Structures 1307
Julie S. Prendiville
31.1 Skin Cysts, Sinuses, Dimples, Tags, Tails,
and Clefts 1309
31.2 Aplasia Cutis Congenita 1311
31.3 Mosaicism and the Lines of Blaschko 1312
31.4 Cutaneous Hamartomas 1315
31.5 Disorders of Keratinization 1319
31.6 Epidermolysis Bullosa 1319
31.7 Developmental Disorders of
Connective Tissue 1321
31.8 Vascular Malformations 1322
31.9 Pigmentation Anomalies 1329
31.10 Malformations of the Epidermal Appendages 1333
32. Endocrine Organs 1339
Amy Potter and John A. Phillips III
32.1 Congenital Adrenal Hyperplasia 1346
32.2 Anterior Pituitary, Hypothalamus, and Disorders of
Short Stature 1349
32.3 Parathyroid Gland: Calcium Sensing
Receptor Defects 1353
32.4 Parathyroid Gland: Albright
Hereditary Osteodystrophy 1353
32.5 Posterior Pituitary and Water Metabolism 1354
32.6 Thyroid and Thyroid Biosynthetic Defects 1354
32.7 Endocrine Tumor Syndromes 1355
32.8 Mendelian Disorders with Endocrine
Abnormalities 1356
32.9 Chromosomal Disorders with Endocrine
Features 1357
33. Asymmetry and Hypertrophy 1359
Omar Abdul Rahman and H. Eugene Hoyme
33.1 Laterality Sequences 1361
33.2 Kartagener Syndrome 1363
Patterns of Asymmetric Growth 1365
33.3 Hemihyperplasia (Hemihypertrophy) 1366
33.4 Hemihypoplasia and Hemiatrophy 1369
33.5 Generalized Overgrowth 1372
34. Twins 1377
Mary C. Phelan and Judith G. Hall
Zygosity and Placentation 1377
Polar Body Twinning 1380
Animal Models of Twinning 1380
Determination of Zygosity 1381
Incidence of Twinning 1382
Causes of Twinning 1383
Sex Ratio 1383
Growth 1384
Spontaneous Abortions 1385
Vanishing Twin 1385
Fetus Papyraceus 1388
Perinatal Morbidity and Mortality 1389
Vascular Anastomoses in Twin Placentas 1390
Twin Twin Transfusion Syndrome 1391
Acardia 1394
Conjoined Twins 1396
Structural Defects 1401
Mirror Image Twinning 1404
Discordance 1404
Caution for Complex Disorders 1404
35. Umbilical Cord 1413
Will Blackburn and Nelson Reede Cooley, Jr.
35.1 Umbilical Cord Calcifications 1417
35.2 Umbilical Cord Amnion (Inclusion) Cysts 1418
35.3 Umbilical Cord Cysts and Remnant Anomalies of
Allantoic Duct Origin 1419
35.4 Umbilical Cord Cysts and Remnants of Vitelline
(Omphalomesenteric Duct) Origin 1421
35.5 Umbilical Cord Pseudocyst (Cystic
Mucoid Degeneration) 1424
35.6 Umbilical Cord Disruption (Linear) 1425
35.7 Umbilical Cord Dimensional Abnormalities 1426
35.8 Umbilical Cord to Cord Entanglements 1434
35.9 Umbilical Cord Hematoma 1436
35.10 Umbilical Cord Hernia 1437
35.11 Anomalies of Umbilical Cord Insertion 1439
35.12 Umbilical Cord Knots 1441
35.13 Umbilical Cord Loops ( Encirclement ) 1443
35.14 Umbilical and Umbilical Cord Polyp 1445
35.15 Abnormalities of Umbilical Cord (Abdominal
Wall) Position 1448
35.16 Antenatal Separation of the Umbilical Cord 1449
35.17 Abnormalities of Postnatal Umbilical
Cord Separation 1450
35.18 Umbilical Cord Torsion (Twist)
Abnormalities 1451
35.19 Umbilical Cord Helical Ulceration 1453
35.20 Umbilical Cord Neoplasms 1454
35.21 Vascular Anomalies of the Umbilical Cord 1457
index to Tables of Malformations
and Associated Syndromes 1473
Subject Index 1477
|
| adam_txt |
Contributors xiii
Part I—Overview
1. Human Malformations and Related Anomalies 3
Roger E. Stevenson
1.1 Nomenclature 6
1.2 Classification and Coding 13
1.3 Genetic Causes of Malformations 14
1.4 Gene Mutations and Malformations 22
1.5 Environmental Causes of Malformations 33
1.6 Human Anomalies with Unknown Causes 58
1.7 Detection, Diagnosis, Evaluation,
Management 58
1.8 Discussions with the Family 71
Part II—Cardiorespiratory Organs
2. Heart 85
Angela E. Lin, John Belmont, and Sadia Malik
2.1 Heterotaxy 93
2.2 Single Ventricle 96
2.3 Conotruncal Defects 97
2.4 Atrioventricular Septal Defects 101
2.5 Right Ventricular Outflow Tract
Obstructive Defects 103
2.6 Left Ventricular Outflow Tract
Obstructive Defects 106
2.7 Atrial Septal Defects 112
2.8 Ventricular Septal Defects 113
2.9 Anomalies of the Pulmonary Veins 115
2.10 Abnormal Systemic Venous Connections 117
2.11 Anomalies of the Ductus Arteriosus 118
2.12 Aortopulmonary Window (Aortopulmonary
Septal Defect) 119
2.13 Anomalies of the Coronary Arteries 119
2.14 Anomalies of the Pericardium 120
3. Systemic Vasculature 121
Lynne M. Bird and Kenneth Lyons Jones
3.1 Interrupted Aortic Arch 121
3.2 Right Aortic Arch 123
3.3 Cervical Aortic Arch 125
3.4 Double Aortic Arch 125
3.5 Double Lumen Aortic Arch 126
3.6 Incidental Anomalies of the Aortic Arch 127
3.7 Innominate Artery Variants 128
3.8 Subclavian Artery Variants 129
3.9 Patent Ductus Arteriosus 130
3.10 Coarctation of the Aorta 133
3.11 Persistent Left Superior Vena Cava 136
3.12 Inferior Vena Cava Variants 137
3.13 Miscellaneous Venous Variants 138
3.14 Deep Vein Abnormalities 139
3.15 Vascular Malformations 140
4. Lymphatic System 145
Judith E. Allanson
4.1 Primary Lymphatic Anomalies 146
4.2 Pulmonary Lymphangiectasia 161
4.3 Fetal Cystic Hygroma 163
4.4 Lymphangioma 169
4.5 Lymphangioleiomyomatosis 180
5. Spleen 183
Arthur S. Aylsworth
5.1 Polyasplenia 185
5.2 Positional Alterations of the Spleen 195
5.3 Accessory Spleens, Structural Variation, and Fusion
to Other Organs 196
6. Lower Respiratory Organs 201
Laurie H. Seaver
6.1 Bifid Epiglottis 201
6.2 Laryngeal Atresia, Webs, and Stenosis 202
6.3 Laryngotracheoesophageal Cleft 205
6.4 Tracheal Agenesis 206
6.5 Tracheal Stenosis 207
viii Cont
6.6 Congenital Tracheal Cartilaginous Sleeve 209
6.7 Tracheoesophageal Fistula 209
6.8 Pulmonary Agenesis/Aplasia 209
6.9 Congenital Cystic Adenomatoid Malformation 211
6.10 Congenital Lobar Emphysema 213
6.11 Primary Pulmonary Hypoplasia 213
6.12 Congenital Diaphragmatic Hernia 214
Part III—Craniofacial Structures
7. Skull 221
John M. Graham, Jr.
7.1 Craniosynostosis 221
7.2 Kleeblattschadel 235
7.3 Wide Cranial Sutures 237
7.4 Anomalies of Fontanels 238
7.5 Cranial Dermal Sinus 242
7.6 Parietal Foramina (Includes Cranium Bifidum) 243
7.7 Wormian Bones 245
7.8 Scalp Vertex Aplasia 246
7.9 Thin Cranial Bones 248
7.10 Undermineralization of the Skull 248
7.11 Craniotabes 249
7.12 Thick Cranial Bones 251
7.13 Sclerosis and Hyperostosis of the Skull 254
7.14 Vertex Birth Molding 254
7.15 Breech Head (Bathrocephaly) 257
7.16 Other Cranial Deformations Due to Abnormal
Fetal Presentation 258
7.17 Anomalies of the Sella Turcica 259
7.18 Anomalies of Foramen Magnum 260
7.19 Anomalies of the Other Basal Foramina
and Canals 261
7.20 Basilar Impression 261
7.21 Cephalhematoma and Caput Succedaneum 262
7.22 Miscellaneous Anomalies of the Skull 264
8. Facial Bones 267
Karen Gripp and Luis Fernando Escobar
8.1 Premature Metopic Sutural Synostosis 268
8.2 Orbital Hypotelorism 270
8.3 Orbital Hypertelorism 273
8.4 Midline Facial Skeletal Clefting 278
8.5 Absence and Hypoplasia of the Zygoma 280
8.6 Midface Retrusion and Hypoplasia 283
8.7 Agnathia 287
8.8 Micrognathia 288
8.9 Congenital Asymmetry of the Facial Skeleton 292
9. Eye 297
Elias I. Traboulsi
9.1 Anophthalmia 299
9.2 Microphthalmia and Typical Uveal Coloboma 300
9.3 Cyclopia and Synophthalmia 302
9.4 Cryptophthalmos 303
9.5 Blepharophimosis 305
9.6 Other Anomalies of the Eyelids 306
9.7 Congenital Corneal Anomalies 309
9.8 Anterior Segment Dysgenesis 311
9.9 Peters Anomaly 313
9.10 Hypoplasia of the Iris (Aniridia) 314
ents
9.11 Congenital Cataracts 316
9.12 Persistent Hyperplastic Primary Vitreous or Persis¬
tence of the Fetal Vasculature 318
9.13 Optic Nerve Hypoplasia 320
9.14 Morning Glory Disc Anomaly 322
9.15 Optic Pit 324
10. Ear 327
John C. Carey
External Ear 329
John C. Carey, Albert H. Park, and Harlan R. Muntz
10.1 Microtia/Anotia 331
10.2 Small Ear 335
10.3 External Auditory Canal Stenosis and Atresia
Without Microtia 336
10.4 Cryptotia 338
10.5 Large Ear (Macrotia) 338
10.6 Polyotia 339
10.7 Duplication of the External Auditory Meatus 340
10.8 Synotia/Otocephaly 340
10.9 Low set Ears 342
10.10 Posteriorly Rotated Ears 344
10.11 Lop/Cup Ear Anomaly 344
10.12 Protruding Ear 346
10.13 StahlEar 348
10.14 Mozart Ear 349
10.15 Darwinian Tubercle 350
10.16 Prominent Cms of the Helix 350
10.17 Lobular Defects 350
10.18 Auricular Tags 351
10.19 Auricular Pits 353
10.20 Ear Lob Creases/Pits 355
10.21 Deformation of the Auricle 356
Middle Ear 356
John C. Carey and Albert H. Park
10.22 Hypoplasia/Aplasia/Malformation
of the Malleus 358
10.23 Fusion Defects of the Malleus 359
10.24 Hypoplasia/Aplasia/Malformation of the Incus 361
10.25 Fusion Defects of the Incus 362
10.26 Hypoplasia/Aplasia/Malformation of the Stapes 362
10.27 Congenital Fixation of the Stapes 363
10.28 Absence of the Oval Window 364
10.29 Congenital Cholesteatoma 364
10.30 Persistence of the Stapedial Artery 365
10.31 Highly Placed Jugular Bulb 365
Inner Ear 366
Daryl A. Scott and John C. Carey
10.32 Vestibular Dysplasias 366
10.33 Prelingual Hearing Loss 369
11. Nose 373
M. Michael Cohen, Jr.
11.1 Arhinia 374
11.2 Unilateral Arhinia, Heminasal Aplasia 374
11.3 Small Nose 375
11.4 Nostril Coloboma 376
11.5 Bifid Nose 376
11.6 Nostril Atresia 377
Con
11.7 Choanal Atresia 377
11.8 Polyrrhinia 378
11.9 Proboscis 378
11.10 Noses of Distinction 381
11.11 Deviation of the Nasal Septum 386
11.12 Turbinate Deformity 386
11.13 Arrhinencephaly 386
11.14 Hemangioma of the Nose 386
11.15 Dermoid Cyst of the Nose 388
11.16 Glioma of the Nose 388
11.17 Encephalocele Involving the Nose 388
12. Lips 391
Marilyn Jones
12.1 Median Cleft Lip 393
12.2 Cleft Lip With or Without
Cleft Palate (CL/P) 394
12.3 Cleft Palate 400
13. Tongue 405
Robert J. Gorlin
13.1 Aglossia, Hypoglossia, Microglossia 406
13.2 Absence of Lingual Frenulum 406
13.3 Macroglossia 407
13.4 Bifid Tongue 408
13.5 Fissured Tongue, Scrotal Tongue,
Lingua Plicata 408
13.6 Glossopalatine Ankylosis
(Ankyloglossum Superius) 409
13.7 Ankyloglossia: Tongue tie, Partial Ankyloglossia,
Total and Lateral Ankyloglossia 410
13.8 Median Rhomboid Glossitis 411
13.9 Double Tongue 412
13.10 Lingual Thyroid 413
13.11 Choristoma of Tongue: Enterogenous Cyst
of Tongue 414
13.12 Choristoma of Tongue: Epidermoid Cyst
of Tongue 416
13.13 Choristoma of Tongue: Cyst Lined with Respiratory
Epithelium or Nonciliated Columnar
: Epithelium 416
! 13.14 Choristoma of Tongue: Brain Tissue in Tongue 416
| 13.15 Choristoma of Tongue: Chondroma
and Osteoma 417
13.16 Congenital Dermoid Cyst 418
13.17 Hamartoma: Lymphangioma of the Tongue 419
13.18 Hamartoma of the Tongue: Hemangioma 420
1 13.19 Hamartoma of the Tongue: Mixed
i Type (Mesenchymoma) 420
13.20 Congenital Teratoma 421
13.21 Abnormal Tongue Movements and Excessive
Mobility of the Tongue 421
13.22 Pigmented Fungiform Papillae and Other Lingual
Pigmentations 423
14. Teeth 425
Rena N. D'Souza, Hitesh Kapadia, and Alexandre R. Vieira
14.1 Tooth Agenesis 431
14.2 Supernumerary Teeth 444
14.3 Microdontia 446
14.4 Macrodontia 451
14.5 Abnormalities of Tooth Shape 452
tents
14.6 Dental Malocclusion 456
14.7 Enamel Dysplasia 458
14.8 Dentin Dysplasia 461
14.9 Cementum Dysplasia 463
14.10 Abnormalities of Tooth Eruption 463
Part IV—Neuromuscular Systems
15. Brain 469
Alasdair G. W. Hunter
15.1 Microcephaly 470
15.2 Megalencephaly 511
15.3 Aprosencephaly/Atelencephaly 525
15.4 Holoprosencephaly 528
15.5 Malformations of Cortical Development:
Disorders of Neuronal and Glial
Formation, Migration, and Maturation;
Lissencephaly, Pachygyria, Polymicrogyria,
Heterotopias, Ectopias, and Cortical
Dysplasias 546
15.6 Agenesis of the Corpus Callosum 581
15.7 Cavum, Cysts, and Absence of the Septum
Pellucidum and Cavum Vergae 604
15.8 Hydrocephalus 610
15.9 Colpocephaly 636
15.10 Hydranencephaly 639
15.11 Porencephaly 645
15.12 Cerebellar Anomalies 654
15.13 Cystic Malformations 677
15.14 Chiari Malformations 700
16. Brain and Spinal Cord 715
Alasdair G. W. Hunter
16.1 Disorders of Neural Tube Closure 715
17. Spinal Cord 757
Alasdair G. W. Hunter
17.1 Primary Tethered Cord 757
17.2 Neurenteric Malformations 762
17.3 Intraspinal (Nonneurenteric) Cysts 764
17.4 Syringomyelia 768
17.5 Split Cord Malformation (Diastematomyelia)
and Diplomyelia 773
17.6 Myelocystocele 776
17.7 Anterior and Lateral Meningoceles 778
17.8 Tailgut Cyst 782
18. Muscle 783
Judith G. Hall
18.1 Generalized Abnormalities of Muscle Mass: Incn
Muscle Mass 786
18.2 Generalized Abnormalities of Muscle Mass: Decn
Muscle Mass 788
18.3 Localized Abnormalities of Muscle 790
18.4 Aglossia 791
18.5 Facial Muscle Deficiency 791
18.6 Asymmetric Crying Facies 791
18.7 Deficiency of Eye Muscles 792
18.8 Deficiency of Esophageal Muscles 792
18.9 Defects of Pectoralis Muscles and Other Muscle
the Shoulder Girdle 793
18.10 Poland Anomaly 794
18.11 Poland Mobius Syndrome 795
18.12 Poland Like Gluteal Lower Leg Anomaly 796
18.13 Prune Belly Syndrome 797
18.14 Isolated Deficiency of Abdominal Muscles 799
18.15 Diaphragmatic Defects 799
18.16 Variations with Accessory Muscle Tissue 800
18.17 Muscle Atavisms 800
18.18 Muscle Abnormalities Associated with
Chromosomal Disorders 801
Part V—Skeletal System 19. Pectoral Girdle, Spine, Ribs, and Pelvic Girdle 805
Louanne Hudgins and Keith Vaux
19.1 Clavicular Hypoplasia/Aplasia 806
19.2 Clavicular Pseudarthrosis 807
19.3 Altered Shape and Other Abnormalities
of the Clavicle 807
19.4 Sprengel Anomaly 807
19.5 Glenoid Hypoplasia 809
19.6 Anomalies of the Sternum 810
19.7 Pectus Excavatum/Pectus Carinatum 811
19.8 Rib Anomalies 812
19.9 Cervical Rib 813
19.10 Occipitalization of the Atlas 813
19.11 Aplasia/Hypoplasia of the Odontoid Process
of the Axis 818
19.12 Segmentation/Formation Defects
of the Vertebrae 819
19.13 Klippel Feil Anomaly 821
19.14 Altered Vertebral Body Contour 823
19.15 Sagittal Clefts of the Vertebrae 825
19.16 Coronal Clefts of the Vertebrae 826
19.17 Spondylolysis and Spondylolisthesis 827
19.18 Sacral Agenesis 829
19.19 Anomalies of the Pelvic Bones 830
19.20 Developmental Dysplasia of the Hip 830
19.21 CoxaVara 833
19.22 CoxaValga 833
20. Limbs 835
Roger E. Stevenson
20.1 Limb Deficiencies 839
20.2 Synostosis 856
20.3 Constriction Rings 871
20.4 Duplications, Excessive Partitions, and
Accessory Bones 876
20.5 Bowing of Long Bones 882
20.6 Short Stature 894
20.7 Tall Stature 900
20.8 Limb Overgrowth 902
20.9 Increased Bone Density 910
20.10 Decreased Bone Density 914
20.11 Osteolysis 916
20.12 Anomalies of the Patella 919
20.13 Hypermobile Joints 922
20.14 Arthrogryposis (Multiple Congenital
Contractures) 925
Judith G. Hall
21. Hands and Feet 935
David B. Everman
21.1 The Polydactylies 937
21.2 The Syndactylies 954
21.3 The Brachydactylies 968
21.4 The Oligodactylies 984
22. Skeletal Dysplasias 997
Jurgen Spranger
Part VI—Gastrointestinal and Related Structures
23. Ventral Wall of the Trunk 1023
Cynthia Curry, Ellen Boyd, and Roger E. Stevenson
23.1 Sternal Defects 1025
23.2 Ectopia Cordis, Including Cantrell Pentalogy 1027
23.3 The Umbilicus: Congenital Anomalies
and Variations in Configuration
and Placement 1028
23.4 Umbilical Hernia 1031
23.5 Omphalocele 1034
23.6 Gastroschisis 1038
23.7 Exstrophy of the Bladder 1042
23.8 Exstrophy of the Cloaca 1046
Breasts 1049
Ellen Boyd and Roger E. Stevenson
23.9 Amastia and Hypomastia 1051
23.10 Enlarged Breasts 1053
23.11 Symmastia 1055
23.12 Supernumerary Breasts and Nipples 1055
23.13 Widely Spaced Nipples 1058
23.14 Gynecomastia 1059
23.15 Premature Thelarche 1063
24. Upper Gastrointestinal System 1065
H. Eugene Hoyme
Pharynx 1067
24.1 Fistulas, Sinuses, and Cysts: Branchial Clefts and
Pouches 1069
24.2 Congenital Pharyngeal Diverticula 1071
Esophagus 1071
24.3 Esophageal Stenosis, Atresia, and Tracheoesophageal
Fistula 1073
24.4 Esophageal Webs and Rings 1076
24.5 Tubular Esophageal Duplications 1077
24.6 Enterogenous Cysts 1077
24.7 Esophageal Diverticula 1078
24.8 Heterotopic Gastric Mucosa
in the Esophagus 1079
24.9 Congenital Short Esophagus 1079
24.10 Achalasia 1079
24.11 Chalasia 1080
Stomach 1081
24.12 Infantile Hypertrophic Pyloric Stenosis 1082
24.13 Microgastria 1084
24.14 Atresia and Stenosis of the Stomach 1084
24.15 True Diverticula of the Stomach 1085
24.16 Duplication of the Stomach 1086
24.17 Defects of Gastric Musculature 1086
24.18 Malposition of the Stomach 1087
24.19 Mucosal Heterotopia 1088
Duodenum 1089
24.20 Malrotation of the Duodenum 1090
24.21 Duodenal Stenosis and Atresia 1090
24.22 Duodenal Duplications 1092
24.23 Duodenal Diverticula 1093
24.24 Congenital Aganglionic Duodenum 1094
24.25 Extrinsic Vascular Obstruction
of the Duodenum 1095
24.26 Congenital Paraduodenal Hernia through a
Peritoneal Defect 1095
25. Small and Large Intestines 1097
Eberhard Passarge and Roger E. Stevenson
25.1 Intestinal Agenesis 1099
25.2 Intestinal Atresia/Stenosis 1099
25.3 Duplications and Cysts 1103
25.4 Megacolon 1105
25.5 Malrotation 1109
25.6 Meckel Diverticulum 1111
25.7 Polyps 1111
25.8 Vascular Anomalies 1114
26. Rectum and Anus 1115
Cathy A. Stevens
26.1 Atresia of the Rectus and Anus 1116
26.2 Rectal Duplication 1122
27. Liver, Gallbladder, and Pancreas 1123
Ian D. Krantz and Arthur S. Aylsworth
27.1 Anomalies of Liver Shape and Lobation 1127
27.2 Liver Dysplasia/Ductal Plate Malformations 1131
27.3 Intrahepatic Biliary Duct Atresia
and Hypoplasia 1136
27.4 Agenesis of the Gallbladder 1139
27.5 Extrahepatic Biliary Atresia 1142
27.6 Cysts of the Biliary System 1145
27.7 Structural Variation and Miscellaneous Anomalies of
the Gallbladder and Extrahepatic Ducts 1147
27.8 Pancreatic Agenesis 1150
27.9 Structural Variation and Anomalies
of the Pancreas 1150
27.10 Pancreatic Cysts and Dysplasias 1154
27.11 Pancreatic Ectopia and Heterotopia 1157
Part VII—Urogenital System Organs 28. Urinary Tract 1161
Jane A. Evans
28.1 Renal Agenesis 1184
28.2 Renal Hypoplasia 1190
28.3 Cystic Diseases 1194
28.4 Autosomal Recessive (Infantile) Polycystic
Kidney Disease 1197
28.5 Autosomal Dominant Polycystic
Kidney Disease 1200
28.6 Renal Dysplasia 1205
28.7 Familial Nephronophthisis/Medullary
Cystic Disease 1215
28.8 Medullary Sponge Kidney 1217
28.9 Renal Cystic Disease Secondary to Obstruction 1219
28.10 Supernumerary Kidney 1222
28.11 Renal Ectopia 1223
28.12 Horseshoe Kidney 1228
28.13 Anomalies of the Bladder and Ureters 1232
28.14 Urachal Anomalies 1234
28.15 Urethral Agenesis or Atresia 1237
28.16 Posterior Urethral Valves and
Urethral Stenosis 1241
28.17 Urethral Duplication 1247
29. Male Genital System 1251
Rick A. Martin
29.1 Micropenis 1255
29.2 Hypospadias 1258
29.3 Epispadias 1261
29.4 Hidden or Concealed Penis 1262
29.5 Megalourethra 1263
29.6 Diphallia 1264
29.7 Aphallia 1265
29.8 Penoscrotal Transposition 1265
29.9 Ectopic/Accessory Scrotum 1267
29.10 Cryptorchidism 1267
29.11 Microorchia/Anorchia/Agonadism 1268
29.12 Polyorchidism (Supernumerary Testes) 1271
29.13 Ectopic Testis 1272
29.14 Male Pseudohermaphroditism and 46.XY
Sex Reversal 1272
29.15 Wolffian Duct Malformations 1276
29.16 Persistent Miillerian Ducts 1276
29.17 Splenogonadal Fusion 1277
29.18 Inguinal Hernia 1277
30. Female Genital System 1279
Leah W. Burke
30.1 Ovarian Dysgenesis 1281
30.2 Mixed Gonadal Dysgenesis 1284
30.3 Hermaphroditism 1286
30.4 Ambiguous Genitalia 1287
30.5 Mullerian Aplasia 1291
Isolated Anomalies of the Mullerian Structures 1294
30.6 Absence of the Fallopian Tube 1294
30.7 Incomplete Mullerian Fusion 1294
30.8 Cervical Atresia 1297
30.9 Vaginal Atresia 1298
30.10 Transverse Vaginal Septum 1299
30.11 Longitudinal Vaginal Septum 1300
30.12 Agenesis of the Clitoris 1300
30.13 Isolated Hypertrophy of the
Clitoris/Clitoromegaly 1301
30.14 Duplication or Bifidism of the
Clitoris/Female Epispadias 1302
30.15 Labial Fusion 1303
30.16 Imperforate Hymen 1303
30.17 Absence/Hypoplasia of External Genitalia 1303
30.18 Hyperplasia, Duplication, and Inversion of
External Genitalia 1304
Part VIII—Other Systems and Structures
31. Cutaneous Structures 1307
Julie S. Prendiville
31.1 Skin Cysts, Sinuses, Dimples, Tags, Tails,
and Clefts 1309
31.2 Aplasia Cutis Congenita 1311
31.3 Mosaicism and the Lines of Blaschko 1312
31.4 Cutaneous Hamartomas 1315
31.5 Disorders of Keratinization 1319
31.6 Epidermolysis Bullosa 1319
31.7 Developmental Disorders of
Connective Tissue 1321
31.8 Vascular Malformations 1322
31.9 Pigmentation Anomalies 1329
31.10 Malformations of the Epidermal Appendages 1333
32. Endocrine Organs 1339
Amy Potter and John A. Phillips III
32.1 Congenital Adrenal Hyperplasia 1346
32.2 Anterior Pituitary, Hypothalamus, and Disorders of
Short Stature 1349
32.3 Parathyroid Gland: Calcium Sensing
Receptor Defects 1353
32.4 Parathyroid Gland: Albright
Hereditary Osteodystrophy 1353
32.5 Posterior Pituitary and Water Metabolism 1354
32.6 Thyroid and Thyroid Biosynthetic Defects 1354
32.7 Endocrine Tumor Syndromes 1355
32.8 Mendelian Disorders with Endocrine
Abnormalities 1356
32.9 Chromosomal Disorders with Endocrine
Features 1357
33. Asymmetry and Hypertrophy 1359
Omar Abdul Rahman and H. Eugene Hoyme
33.1 Laterality Sequences 1361
33.2 Kartagener Syndrome 1363
Patterns of Asymmetric Growth 1365
33.3 Hemihyperplasia (Hemihypertrophy) 1366
33.4 Hemihypoplasia and Hemiatrophy 1369
33.5 Generalized Overgrowth 1372
34. Twins 1377
Mary C. Phelan and Judith G. Hall
Zygosity and Placentation 1377
Polar Body Twinning 1380
Animal Models of Twinning 1380
Determination of Zygosity 1381
Incidence of Twinning 1382
Causes of Twinning 1383
Sex Ratio 1383
Growth 1384
Spontaneous Abortions 1385
Vanishing Twin 1385
Fetus Papyraceus 1388
Perinatal Morbidity and Mortality 1389
Vascular Anastomoses in Twin Placentas 1390
Twin Twin Transfusion Syndrome 1391
Acardia 1394
Conjoined Twins 1396
Structural Defects 1401
Mirror Image Twinning 1404
Discordance 1404
Caution for Complex Disorders 1404
35. Umbilical Cord 1413
Will Blackburn and Nelson Reede Cooley, Jr.
35.1 Umbilical Cord Calcifications 1417
35.2 Umbilical Cord Amnion (Inclusion) Cysts 1418
35.3 Umbilical Cord Cysts and Remnant Anomalies of
Allantoic Duct Origin 1419
35.4 Umbilical Cord Cysts and Remnants of Vitelline
(Omphalomesenteric Duct) Origin 1421
35.5 Umbilical Cord Pseudocyst (Cystic
Mucoid Degeneration) 1424
35.6 Umbilical Cord Disruption (Linear) 1425
35.7 Umbilical Cord Dimensional Abnormalities 1426
35.8 Umbilical Cord to Cord Entanglements 1434
35.9 Umbilical Cord Hematoma 1436
35.10 Umbilical Cord Hernia 1437
35.11 Anomalies of Umbilical Cord Insertion 1439
35.12 Umbilical Cord Knots 1441
35.13 Umbilical Cord Loops ("Encirclement") 1443
35.14 Umbilical and Umbilical Cord Polyp 1445
35.15 Abnormalities of Umbilical Cord (Abdominal
Wall) Position 1448
35.16 Antenatal Separation of the Umbilical Cord 1449
35.17 Abnormalities of Postnatal Umbilical
Cord Separation 1450
35.18 Umbilical Cord Torsion (Twist)
Abnormalities 1451
35.19 Umbilical Cord Helical Ulceration 1453
35.20 Umbilical Cord Neoplasms 1454
35.21 Vascular Anomalies of the Umbilical Cord 1457
index to Tables of Malformations
and Associated Syndromes 1473
Subject Index 1477 |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
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| callnumber-search | QM691 |
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| callnumber-subject | QM - Human Anatomy |
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| dewey-full | 616/.043 |
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| discipline | Medizin |
| discipline_str_mv | Medizin |
| edition | 2. ed. |
| format | Book |
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| id | DE-604.BV021655138 |
| illustrated | Illustrated |
| index_date | 2024-07-02T15:04:10Z |
| indexdate | 2024-07-09T20:40:54Z |
| institution | BVB |
| isbn | 0195165683 |
| language | English |
| lccn | 2004061661 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-014869727 |
| oclc_num | 56840273 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | XIV, 1495 S. zahlr. Ill., graph. Darst. 28 cm |
| publishDate | 2006 |
| publishDateSearch | 2006 |
| publishDateSort | 2006 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spelling | Human malformations and related anomalies ed. by Roger E. Stevenson ... 2. ed. Oxford Oxford Univ. Press 2006 XIV, 1495 S. zahlr. Ill., graph. Darst. 28 cm txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 52 Abnormalities, Human Abnormalities Genetics, Medical Anomalie Medizin (DE-588)4068733-8 gnd rswk-swf Missbildungskomplex (DE-588)4231504-9 gnd rswk-swf Missbildung (DE-588)4039561-3 gnd rswk-swf Missbildung (DE-588)4039561-3 s DE-604 Missbildungskomplex (DE-588)4231504-9 s Anomalie Medizin (DE-588)4068733-8 s b DE-604 Stevenson, Roger E. Sonstige oth Oxford monographs on medical genetics 52 (DE-604)BV000008339 52 http://www.loc.gov/catdir/enhancements/fy0639/2004061661-d.html Publisher description http://www.loc.gov/catdir/enhancements/fy0639/2004061661-t.html Table of contents HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014869727&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Human malformations and related anomalies Oxford monographs on medical genetics Abnormalities, Human Abnormalities Genetics, Medical Anomalie Medizin (DE-588)4068733-8 gnd Missbildungskomplex (DE-588)4231504-9 gnd Missbildung (DE-588)4039561-3 gnd |
| subject_GND | (DE-588)4068733-8 (DE-588)4231504-9 (DE-588)4039561-3 |
| title | Human malformations and related anomalies |
| title_auth | Human malformations and related anomalies |
| title_exact_search | Human malformations and related anomalies |
| title_exact_search_txtP | Human malformations and related anomalies |
| title_full | Human malformations and related anomalies ed. by Roger E. Stevenson ... |
| title_fullStr | Human malformations and related anomalies ed. by Roger E. Stevenson ... |
| title_full_unstemmed | Human malformations and related anomalies ed. by Roger E. Stevenson ... |
| title_short | Human malformations and related anomalies |
| title_sort | human malformations and related anomalies |
| topic | Abnormalities, Human Abnormalities Genetics, Medical Anomalie Medizin (DE-588)4068733-8 gnd Missbildungskomplex (DE-588)4231504-9 gnd Missbildung (DE-588)4039561-3 gnd |
| topic_facet | Abnormalities, Human Abnormalities Genetics, Medical Anomalie Medizin Missbildungskomplex Missbildung |
| url | http://www.loc.gov/catdir/enhancements/fy0639/2004061661-d.html http://www.loc.gov/catdir/enhancements/fy0639/2004061661-t.html http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014869727&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000008339 |
| work_keys_str_mv | AT stevensonrogere humanmalformationsandrelatedanomalies |